3016589
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Exome Sequencing, Familial Control

EXOME FRPT
Example Reports
Negative
Positive

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Exome or Genome Sequencing Preauthorization

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Additional Technical Information

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REQUIRED - Exome Sequencing Intake Form

Ordering Recommendation

Use to submit parental/familial control samples for Exome Sequencing (3016583). If reporting of secondary findings, including pathogenic variants in the American College of Medical Genetics recommended genes, for parental samples is desired, indicate opt-in status on the Exome Sequencing Intake Form (additional charges apply).

New York DOH Approval Status

This test is not New York state approved. ARUP cannot facilitate testing for New York state clients. Please work directly with a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B). Peripheral blood required. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 prior to test submission
New York State Clients: ARUP cannot facilitate testing for New York patients. Please work directly with a New York-approved laboratory.

Specimen Preparation

Transport 2 mL whole blood. (Min: 1.0 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions
Remarks

This test is used for parental control samples associated with a proband sample submitted for EXOME PRO. Submit comparator samples within 7 days of the probands sample. If a report for a parental control sample is desired, indicate opt-in status for ACMG secondary findings on the exome sequencing intake form (additional charges apply).

Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

21-28 days

Reference Interval

N/A

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Parental samples are used to aid in interpretation of the proband's exome sequencing data. Please indicate on the exome sequencing intake form if a report of American College of Medical Genetics and Genomics (ACMG) secondary findings is desired for submitted parental controls (additional charges apply). Please list the name/DOB for parental controls on the exome sequencing intake form.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/19/2024
X
08/21/2023
X
N/A

CPT Codes

NA

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Components

Component Test Code* Component Chart Name LOINC
3016590 EXOME FRPT Int 86205-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • ACMG incidental findings
  • ACMG secondary findings
  • Familial exome control
  • Parental exome control
  • WES comparator
Exome Sequencing, Familial Control